Canonical Allele Identifier: CA030525

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 509176
• ClinVar RCV Id: RCV000613875 ; RCV000866838
• dbSNP Id: rs753149816
• ExAC: 7:150648099 G / A
• gnomAD v2: 7-150648099-G-A
• gnomAD v3: 7-150951011-G-A
• gnomAD v4: 7-150951011-G-A
• MyVariant Identifiers: chr7:g.150648099G>A (hg19) ; chr7:g.150951011G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951011G>A , CM000669.2:g.150951011G>A	GRCh38
NC_000007.13:g.150648099G>A , CM000669.1:g.150648099G>A	GRCh37
NC_000007.12:g.150279032G>A	NCBI36
NG_008916.1:g.31916C>T , LRG_288:g.31916C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1353C>T
ENST00000683359.1:n.179C>T
ENST00000684241.1:n.2888C>T
ENST00000262186.10:c.2055C>T MANE Select	ENSP00000262186.5:p.Arg685=
ENST00000330883.9:c.1035C>T	ENSP00000328531.4:p.Arg345=
ENST00000262186.9:c.2055C>T	ENSP00000262186.5:p.Arg685=
ENST00000330883.8:c.1035C>T	ENSP00000328531.4:p.Arg345=
ENST00000430723.4:c.1707C>T	ENSP00000387657.4:p.Arg569=
ENST00000461280.1:n.1342C>T
ENST00000473610.5:n.1687C>T
ENST00000532957.5:n.2278C>T
NM_000238.3:c.2055C>T , LRG_288t1:c.2055C>T	NP_000229.1:p.Arg685=
NM_001204798.1:c.1035C>T	NP_001191727.1:p.Arg345=
NM_172056.2:c.2055C>T , LRG_288t2:c.2055C>T	NP_742053.1:p.Arg685=
NM_172057.2:c.1035C>T , LRG_288t3:c.1035C>T	NP_742054.1:p.Arg345=
XM_011516185.1:c.1755C>T	XP_011514487.1:p.Arg585=
XM_011516186.1:c.2055C>T	XP_011514488.1:p.Arg685=
XM_011516185.2:c.1755C>T	XP_011514487.1:p.Arg585=
XM_011516186.3:c.2055C>T	XP_011514488.1:p.Arg685=
XM_017012195.1:c.1905C>T	XP_016867684.1:p.Arg635=
XM_017012196.1:c.1878C>T	XP_016867685.1:p.Arg626=
NM_000238.4:c.2055C>T MANE Select	NP_000229.1:p.Arg685=
NM_001204798.2:c.1035C>T	NP_001191727.1:p.Arg345=
NM_172057.3:c.1035C>T	NP_742054.1:p.Arg345=